Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant-Reference-Cited by-同舟云学术

Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant

Published:2023-11 Issue: Volume: Page:
ISSN:1931-5244
Container-title:Translational Research
language:en
Short-container-title:Translational Research

Author:

Durin Zoé,Raynor Alexandre,Fenaille François,Cholet Sophie,Vuillaumier-Barrot Sandrine,Alili Jean-Meidi,Poupon Joël,Oussedik Nouzha Djebrani,Tuchmann-Durand Caroline,Attali Jennifer,Touzé Romain,Dupré Thierry,Lebredonchel Elodie,Akaffou Marlyse Angah,Legrand Dominique,de Lonlay Pascale,Bruneel Arnaud,Foulquier François

Publisher

Elsevier BV

Subject

Biochemistry (medical),Public Health, Environmental and Occupational Health,General Medicine,Physiology (medical)

Reference30 articles.

1. Congenital disorders of glycosylation: narration of a story through its patents;Monticelli;Orphanet J Rare Dis,2023

2. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90;Jaeken;Pediatr Res,1980

3. TMEM165 deficiency causes a congenital disorder of glycosylation;Foulquier;Am Hum Genet,2012

4. Bone dysplasia as a key feature in three patients with a novel congenital disorder of glycosylation (CDG) Type II due to a deep intronic splice mutation in TMEM165;Zeevaert;JIMD Rep,2012

5. Differential effects of D-galactose supplementation on golgi glycosylation defects in TMEM165 deficiency;Durin;Front Cell Dev Biol,2022

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Insights into molecular and cellular functions of the Golgi calcium/manganese-proton antiporter TMEM165;Journal of Biological Chemistry;2024-08